Nature Communications (Apr 2020)
Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction
- Kathryn L. Post,
- Manuel Belmadani,
- Payel Ganguly,
- Fabian Meili,
- Riki Dingwall,
- Troy A. McDiarmid,
- Warren M. Meyers,
- Caitlin Herrington,
- Barry P. Young,
- Daniel B. Callaghan,
- Sanja Rogic,
- Matthew Edwards,
- Ana Niciforovic,
- Alessandro Cau,
- Catharine H. Rankin,
- Timothy P. O’Connor,
- Shernaz X. Bamji,
- Christopher J. R. Loewen,
- Douglas W. Allan,
- Paul Pavlidis,
- Kurt Haas
Affiliations
- Kathryn L. Post
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Manuel Belmadani
- Department of Psychiatry, University of British Columbia
- Payel Ganguly
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Fabian Meili
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Riki Dingwall
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Troy A. McDiarmid
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Warren M. Meyers
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Caitlin Herrington
- Department of Cellular and Physiological Sciences, University of British Columbia
- Barry P. Young
- Department of Cellular and Physiological Sciences, University of British Columbia
- Daniel B. Callaghan
- Department of Psychiatry, University of British Columbia
- Sanja Rogic
- Department of Psychiatry, University of British Columbia
- Matthew Edwards
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Ana Niciforovic
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Alessandro Cau
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Catharine H. Rankin
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Timothy P. O’Connor
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Shernaz X. Bamji
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Christopher J. R. Loewen
- Department of Cellular and Physiological Sciences, University of British Columbia
- Douglas W. Allan
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Paul Pavlidis
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- Kurt Haas
- Djavad Mowafaghian Centre for Brain Health, University of British Columbia
- DOI
- https://doi.org/10.1038/s41467-020-15943-0
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
Mutations in PTEN have been associated with various human disease, including autism spectrum disorder (ASD) and cancer. Here, the authors assess the function of 106 PTEN variants in yeast, invertebrate models and cell culture and report that PTEN variants generally decrease protein stability.
